Familial hypercholesterolaemia – lessons from the Dutch FH Screening Project

25th June 2023, Dr Chee L Khoo

FH

A few weeks ago we explored familial hypercholesterolaemia (FH) primarily in adults. The issues we touched on were how not so rare FH really is and further, how aggressive we should target the LDL-Cholesterol (LDL-C). As we know, commencing lipid lowering agents is only the first step. The next step is to agree on what the LDL-C target should be in this patient based on the cardiovascular risk of the patient.…

Familial hypercholesterolaemia – is it really that rare?

9th April 2023, Dr Chee L Khoo

Familial Hypercholesterolaemia

One of the most important contributor to atherosclerosis is elevated cholesterol levels. Familial hypercholesterolaemia (FH) is a genetic disease that manifests as a disorder of cholesterol metabolism by mutations in hereditary genes usually in an autosomal dominant manner.  Data suggest that 1 in 200 Caucasians are heterozygous for FH and that 1 in 160,000–300,000 are homozygous, which are much higher prevalence than those estimated a decade earlier (1).…

Familial hypercholesterolaemia is rare but what can it teach us?

27th February 2022, Dr Chee L Khoo

Hypercholesterolaemia

Homozygous familial hypercholesterolaemia (HoFH) is one of those conditions that allow us to prescribe the new PCSK9 inhibitors under PBS Authority. It is a pretty rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol (LDL) levels and significantly elevated risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite the extreme high risks, HoFH is usually go unrecognised and if recognised are diagnosed late and undertreated.…